DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Delayed speech and language development ×

Variants associated to the Gene: CACNA1A ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			14
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7